A novel variant in the ALDH3A2 gene causative of Sjögren–Larsson syndrome evaluated in silico aids in proper genetic counseling and planning management
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder caused by mutations in the ALDH3A2 gene, resulting in a deficiency of the enzyme fatty aldehyde dehydrogenase (FALDH). This study presents the findings of a case involving an 18-month-old female child with congenital ichthyo...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Academia.edu Journals
2025-05-01
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| Series: | Academia Molecular Biology and Genomics |
| Online Access: | https://www.academia.edu/129472625/A_novel_variant_in_the_ALDH3A2_gene_causative_of_Sj%C3%B6gren_Larsson_syndrome_evaluated_in_silico_aids_in_proper_genetic_counseling_and_planning_management |
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